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1.
  • Abdalla, E., et al. (författare)
  • Cosmology intertwined : A review of the particle physics, astrophysics, and cosmology associated with the cosmological tensions and anomalies
  • 2022
  • Ingår i: Journal of High Energy Astrophysics. - : Elsevier BV. - 2214-4048 .- 2214-4056. ; 34, s. 49-211
  • Tidskriftsartikel (refereegranskat)abstract
    • The standard Λ Cold Dark Matter (ΛCDM) cosmological model provides a good description of a wide range of astrophysical and cosmological data. However, there are a few big open questions that make the standard model look like an approximation to a more realistic scenario yet to be found. In this paper, we list a few important goals that need to be addressed in the next decade, taking into account the current discordances between the different cosmological probes, such as the disagreement in the value of the Hubble constant H0, the σ8–S8 tension, and other less statistically significant anomalies. While these discordances can still be in part the result of systematic errors, their persistence after several years of accurate analysis strongly hints at cracks in the standard cosmological scenario and the necessity for new physics or generalisations beyond the standard model. In this paper, we focus on the 5.0σ tension between the Planck CMB estimate of the Hubble constant H0 and the SH0ES collaboration measurements. After showing the H0 evaluations made from different teams using different methods and geometric calibrations, we list a few interesting new physics models that could alleviate this tension and discuss how the next decade's experiments will be crucial. Moreover, we focus on the tension of the Planck CMB data with weak lensing measurements and redshift surveys, about the value of the matter energy density Ωm, and the amplitude or rate of the growth of structure (σ8,fσ8). We list a few interesting models proposed for alleviating this tension, and we discuss the importance of trying to fit a full array of data with a single model and not just one parameter at a time. Additionally, we present a wide range of other less discussed anomalies at a statistical significance level lower than the H0–S8 tensions which may also constitute hints towards new physics, and we discuss possible generic theoretical approaches that can collectively explain the non-standard nature of these signals. Finally, we give an overview of upgraded experiments and next-generation space missions and facilities on Earth that will be of crucial importance to address all these open questions. 
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  • Clark, Andrew G., et al. (författare)
  • Evolution of genes and genomes on the Drosophila phylogeny
  • 2007
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
  • Tidskriftsartikel (refereegranskat)abstract
    • Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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  • Knobler, R., et al. (författare)
  • Guidelines on the use of extracorporeal photopheresis
  • 2014
  • Ingår i: Journal of the European Academy of Dermatology and Venereology. - : Wiley-Blackwell. - 0926-9959 .- 1468-3083. ; 28:s1, s. 1-37
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundAfter the first investigational study on the use of extracorporeal photopheresis for the treatment of cutaneous T-cell lymphoma was published in 1983 with its subsequent recognition by the FDA for its refractory forms, the technology has shown significant promise in the treatment of other severe and refractory conditions in a multi-disciplinary setting. Among the major studied conditions are graft versus host disease after allogeneic bone marrow transplantation, systemic sclerosis, solid organ transplant rejection and inflammatory bowel disease. Materials and methodsIn order to provide recognized expert practical guidelines for the use of this technology for all indications the European Dermatology Forum (EDF) proceeded to address these questions in the hands of the recognized experts within and outside the field of dermatology. This was done using the recognized and approved guidelines of EDF for this task. Results and conclusionThese guidelines provide at present the most comprehensive available expert recommendations for the use of extracorporeal photopheresis based on the available published literature and expert consensus opinion.
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  • Knobler, R., et al. (författare)
  • European dermatology forum : Updated guidelines on the use of extracorporeal photopheresis 2020 - Part 2
  • 2021
  • Ingår i: Journal of the European Academy of Dermatology and Venereology. - : Wiley-Blackwell Publishing Inc.. - 0926-9959 .- 1468-3083. ; 35:1, s. 27-49
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundFollowing the first investigational study on the use of extracorporeal photopheresis for the treatment of cutaneous T‐cell lymphoma published in 1983, this technology has received continued use and further recognition for additional earlier as well as refractory forms. After the publication of the first guidelines for this technology in the JEADV in 2014, this technology has maintained additional promise in the treatment of other severe and refractory conditions in a multidisciplinary setting. It has confirmed recognition in well‐known documented conditions such as graft‐vs.‐host disease after allogeneic bone marrow transplantation, systemic sclerosis, solid organ transplant rejection including lung, heart and liver and to a lesser extent inflammatory bowel disease.Materials and methodsIn order to further provide recognized expert practical guidelines for the use of this technology for all indications, the European Dermatology Forum (EDF) again proceeded to address these questions in the hands of the recognized experts within and outside the field of dermatology. This was done using the recognized and approved guidelines of EDF for this task. All authors had the opportunity to review each contribution as it was added.Results and conclusionThese updated 2020 guidelines provide at present the most comprehensive available expert recommendations for the use of extracorporeal photopheresis based on the available published literature and expert consensus opinion. The guidelines were divided into two parts: PART I covers Cutaneous T‐cell lymphoma, chronic graft‐vs.‐host disease and acute graft‐vs.‐host disease, while PART II will cover scleroderma, solid organ transplantation, Crohn’s disease, use of ECP in paediatric patients, atopic dermatitis, type 1 diabetes, pemphigus, epidermolysis bullosa acquisita and erosive oral lichen planus.
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  • Knobler, R., et al. (författare)
  • European dermatology forum - updated guidelines on the use of extracorporeal photopheresis 2020-part 1
  • 2020
  • Ingår i: Journal of the European Academy of Dermatology and Venereology. - : WILEY. - 0926-9959 .- 1468-3083. ; 34:12, s. 2693-2716
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Following the first investigational study on the use of extracorporeal photopheresis for the treatment of cutaneous T-cell lymphoma published in 1983, this technology has received continued use and further recognition for additional earlier as well as refractory forms. After the publication of the first guidelines for this technology in the JEADV in 2014, this technology has maintained additional promise in the treatment of other severe and refractory conditions in a multi-disciplinary setting. It has confirmed recognition in well-known documented conditions such as graft-versus-host disease after allogeneic bone marrow transplantation, systemic sclerosis, solid organ transplant rejection including lung, heart and liver and to a lesser extent inflammatory bowel disease. Materials and methods In order to further provide recognized expert practical guidelines for the use of this technology for all indications, the European Dermatology Forum (EDF) again proceeded to address these questions in the hands of the recognized experts within and outside the field of dermatology. This was done using the recognized and approved guidelines of EDF for this task. All authors had the opportunity to review each contribution as it was added. Results and conclusion These updated 2020 guidelines provide at present the most comprehensive available expert recommendations for the use of extracorporeal photopheresis based on the available published literature and expert consensus opinion. The guidelines are divided in two parts: PART I covers cutaneous T-cell lymphoma, chronic graft-versus-host disease and acute graft-versus-host disease while PART II will cover scleroderma, solid organ transplantation, Crohns disease, use of ECP in paediatrics practice, atopic dermatitis, type 1 diabetes, pemphigus, epidermolysis bullosa acquisita and erosive oral lichen planus.
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  • Bauer, H C, et al. (författare)
  • The Scandinavian Sarcoma Group Register 1986-2001.
  • 2004
  • Ingår i: Acta orthopaedica Scandinavica. Supplementum. - : Medical Journals Sweden AB. - 0300-8827 .- 0001-6470. ; 75:Supplement 311, s. 8-10
  • Tidskriftsartikel (refereegranskat)
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  • Hillier, Ladeana W, et al. (författare)
  • Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
  • 2004
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
  • Tidskriftsartikel (refereegranskat)abstract
    • We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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  • Montan, C., et al. (författare)
  • Massive Blood Transfusion in Patients with Ruptured Abdominal Aortic Aneurysm
  • 2016
  • Ingår i: European Journal of Vascular and Endovascular Surgery. - : Elsevier BV. - 1078-5884. ; 52:5, s. 597-603
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives The aim was to study blood transfusions and blood product ratios in massively transfused patients treated for ruptured abdominal aortic aneurysms (rAAAs). Methods This was a registry based cohort study of rAAA patients repaired at three major vascular centres between 2008 and 2013. Data were collected from the Swedish Vascular Registry, hospitals medical records, and local transfusion registries. The transfusion data were analysed for the first 24 h of treatment. Massive transfusion (MT) was defined as 4 or more units of red blood cell (RBC) transfused within 1 h, or 10 or more RBC units within 24 h. Logistic regression was used to calculate the odds ratio of 30 day mortality associated with the ratios of blood products and timing of first units of platelets (PLTs) and fresh frozen plasma (FFP) transfused. Results Three hundred sixty nine rAAA patients were included: 80% men; 173 endovascular aneurysm repairs (EVARs) and 196 open repairs (ORs) with median RBC transfusion 8 units (Q1–Q3, 4–14) and 14 units (Q1–Q3, 8–28), respectively. A total of 261 (71%) patients required MT. EVAR patients with MT (n = 96) required less transfusion than OR patients (n = 165): median RBC 10 units (Q1–Q3, 6–16.5) vs. 15 units (Q1–Q3, 9–26) (p = .002), FFP 6 units (Q1–Q3, 2–14.5) vs. 13 units (Q1–Q3, 7–24) (p < .001), and PLT 0 units (Q1–Q3, 0–2) vs. 2 units (Q1–Q3, 0–4) (p = .01). Median blood product ratios in MT patients were FFP/RBC (EVAR group 0.59 [0.33–0.86], OR group 0.84 [0.67–1.2]; p < .001], and PLT/RBC (EVAR 0 [0–0.17], OR 0.12 (0–0.18); p < .001]. In patients repaired by OR a FFP/RBC ratio close to 1 was associated with reduced 30 day mortality (p = .003). The median PLT/RBC ratio was higher during the later part of the study period (p < .001, median test), whereas there was no significant difference in median FFP/RBC ratio (p = .101, median test). Conclusion The majority of rAAA patients undergoing EVAR required MT. EVAR patients treated with MT had lower FFP/RBC and PLT/RBC ratios than OR patients with MT. The mortality risk was lower with FFP/RBC ratio close to 1:1 in open repaired patients requiring MT. The 24 h PLT/RBC ratio increased over the study period.
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  • Bauer, Henrik C. F., et al. (författare)
  • The Scandinavian Sarcoma Group Register 1986-2008
  • 2009
  • Ingår i: Acta Orthopaedica. - : Medical Journals Sweden AB. - 1745-3682 .- 1745-3674. ; 80:Suppl. 334, s. 13-14
  • Tidskriftsartikel (refereegranskat)
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  • Bauer, Hjärtcentrum, et al. (författare)
  • Monitoring referral and treatment in soft tissue sarcoma : Study based on 1,851 patients from the Scandinavian Sarcoma Group Register
  • 2001
  • Ingår i: Acta Orthopaedica Scandinavica. - : Medical Journals Sweden AB. - 0001-6470. ; 72:2, s. 150-159
  • Tidskriftsartikel (refereegranskat)abstract
    • This report is based on 1.851 adult patients with soft tissue sarcoma (STS) of the extremities or trunk wall diagnosed between 1986 and 1997 and reported from all tertiary referral centers in Norway and Sweden. The median age at diagnosis was 65 years and the male-to-female ratio was 1.1:1. One third of the tumors were subcutaneous, one third deep, intramuscular and one third deep, extramuscular. The median size was 7 (1-35) cm and 75% were high grade (III-IV). Metastases at presentation were diagnosed in 8% of the patients. Two thirds of STS patients were referred before surgery and the referral practices have improved during the study. The preoperative morphologic diagnosis was made with fine-needle aspiration cytology in 81%, core-needle biopsy in 9% and incisional biopsy in 10%. The frequency of amputations has decreased from 15% in 1986-88 to 9% in 1995-1997. A wide surgical margin was achieved in 77% of subcutaneous and 60% of deep-seated lesions. Overall, 24% of operated STS patients had adjuvant radiotherapy. The use of such therapy at sarcoma centers increased from 20% 1986-88 to 30% in 1995-97. Follow-up has been reported in 96% of the patients. The cumulative local recurrence rate was 0.20 at 5 years and 0.24 at 10 years. The 5-year metastasis-free survival rate was 0.70.
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  • Berlin, Sofia, et al. (författare)
  • Testing for adaptive evolution of the female reproductive protein ZPC in mammals, birds and fishes reveals problems with the M7-M8 likelihood ratio test.
  • 2005
  • Ingår i: BMC Evolutionary Biology. - 1471-2148. ; 5, s. 65-
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Adaptive evolution appears to be a common feature of reproductive proteins across a very wide range of organisms. A promising way of addressing the evolutionary forces responsible for this general phenomenon is to test for adaptive evolution in the same gene but among groups of species, which differ in their reproductive biology. One can then test evolutionary hypotheses by asking whether the variation in adaptive evolution is consistent with the variation in reproductive biology. We have attempted to apply this approach to the study of a female reproductive protein, zona pellucida C (ZPC), which has been previously shown by the use of likelihood ratio tests (LRTs) to be under positive selection in mammals. RESULTS: We tested for evidence of adaptive evolution of ZPC in 15 mammalian species, in 11 avian species and in six fish species using three different LRTs (M1a-M2a, M7-M8, and M8a-M8). The only significant findings of adaptive evolution came from the M7-M8 test in mammals and fishes. Since LRTs of adaptive evolution may yield false positives in some situations, we examined the properties of the LRTs by several different simulation methods. When we simulated data to test the robustness of the LRTs, we found that the pattern of evolution in ZPC generates an excess of false positives for the M7-M8 LRT but not for the M1a-M2a or M8a-M8 LRTs. This bias is strong enough to have generated the significant M7-M8 results for mammals and fishes. CONCLUSION: We conclude that there is no strong evidence for adaptive evolution of ZPC in any of the vertebrate groups we studied, and that the M7-M8 LRT can be biased towards false inference of adaptive evolution by certain patterns of non-adaptive evolution.
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  • Blaha, M., et al. (författare)
  • Analysis of extracorporeal photopheresis within the frame of the WAA register
  • 2021
  • Ingår i: Transfusion and apheresis science. - : Elsevier. - 1473-0502 .- 1878-1683. ; 60:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim of the study was to investigate safety and if extracorporeal photopheresis (ECP) may change health criteria (HC) and quality of life (QoL).Material and method: 560 patients (33 % women) were treated with ECP for a total of 13,871 procedures during a 17-years period. Mean age was 48 years (±18, range 3−81 years). Self-estimation of QoL was graded: 0 (suicidal) up to 10 (best ever) and HC: 0 (Bed ridden, ICU condition) up to 10 (athletic). Adverse events were analyzed. ANOVA and paired comparisons were performed.Results: Patients were treated due to graft versus host disease (GVHD, n = 317), skin lymphoma (n = 70), solid organ transplants (n = 47), skin diseases (n = 20) and other diseases (n = 106). Adverse events (AEs) were registered in 5.4 % of the first treatments and in 1.2 % of the subsequent procedures. Severe AEs were present in 0.04 % of all procedures. No patient died due to the procedure. Tingling and stitching were the most common AE. For those with GVHD an improvement was noticed within approximately 10 procedures of ECP in the severity stage, QoL (from a mean of 6.1 to 6.8, p < 0.002) and the HC (6.1 -> 6.4, p < 0.014) and improved further with added procedures.Conclusion: Photopheresis is an established therapy with few side effects. The present study of soft variables indicate that GVHD shows benefits upon ECP within approximately 10 procedures in regard to the severity of mainly skin GVHD, and lower baseline levels of HC and QoL.
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  • Brawand, David, et al. (författare)
  • The genomic substrate for adaptive radiation in African cichlid fish
  • 2014
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 513:7518, s. 375-381
  • Tidskriftsartikel (refereegranskat)abstract
    • Cichlid fishes are famous for large, diverse and replicated adaptive radiations in the Great Lakes of East Africa. To understand themolecular mechanisms underlying cichlid phenotypic diversity, we sequenced the genomes and transcriptomes of five lineages of African cichlids: the Nile tilapia (Oreochromis niloticus), an ancestral lineage with low diversity; and four members of the East African lineage: Neolamprologus brichardi/pulcher (older radiation, Lake Tanganyika), Metriaclima zebra (recent radiation, Lake Malawi), Pundamilia nyererei (very recent radiation, Lake Victoria), and Astatotilapia burtoni (riverine species around Lake Tanganyika). We found an excess of gene duplications in the East African lineage compared to tilapia and other teleosts, an abundance of non-coding element divergence, accelerated coding sequence evolution, expression divergence associated with transposable element insertions, and regulation by novel microRNAs. In addition, we analysed sequence data from sixty individuals representing six closely related species from Lake Victoria, and show genome-wide diversifying selection on coding and regulatory variants, some of which were recruited from ancient polymorphisms. We conclude that a number of molecular mechanisms shaped East African cichlid genomes, and that amassing of standing variation during periods of relaxed purifying selection may have been important in facilitating subsequent evolutionary diversification.
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  • Castor, C, et al. (författare)
  • Psychometric evaluation of the electronic faces thermometer scale for pain assessment in children 8–17 years old : A study protocol
  • 2023
  • Ingår i: Paediatric and Neonatal Pain. - : John Wiley & Sons. - 2637-3807 .- 2379-5824. ; 5:4, s. 99-109
  • Tidskriftsartikel (refereegranskat)abstract
    • It is often a challenge for a child to communicate their pain, and their possibilities to do so should be strengthened in healthcare settings. Digital self-assessment provides a potential solution for person-centered care in pain management and promotes child participation when a child is ill. A child's perception of pain assessment differs when it is assessed using digital or analog formats. As we move into the digital era, there is an urgent need to validate digital pain assessment tools, including the newly developed electronic Faces Thermometer Scale (eFTS). This study protocol describes three studies with the overall aim to evaluate psychometric properties of the eFTS for assessing pain in children 8?17?years of age. A multi-site project design combining quantitative and qualitative methods will be used for three observational studies. Study 1: 100 Swedish-speaking children will report the level of anticipated pain from vignettes describing painful situations in four levels of pain and a think-aloud method will be used for data collection. Data will be analyzed with phenomenography as well as descriptive and comparative statistics. Study 2: 600 children aged 8?17?years at pediatric and dental settings in Sweden, Denmark, Iceland, and USA will be included. Children will assess their pain intensity due to medical or dental procedures, surgery, or acute pain using three different pain Scales for each time point; the eFTS, the Faces Pain Scale Revised, and the Coloured Analogue Scale. Descriptive and comparative statistics will be used, with subanalysis taking cultural context into consideration. Study 3: A subgroup of 20 children out of these 600 children will be purposely included in an interview to describe experiences of grading their own pain using the eFTS. Qualitative data will be analyzed with content analysis. Our pilot studies showed high level of adherence to the study procedure and rendered only a small revision of background questionnaires. Preliminary analysis indicated that the instruments are adequate to be used by children and that the analysis plan is feasible. A digital pain assessment tool contributes to an increase in pain assessment in pediatric care. The Medical Research Council framework for complex interventions in healthcare supports a thorough development of a new scale. By evaluating psychometric properties in several settings by both qualitative and quantitative methods, the eFTS will become a well-validated tool to strengthen the child's voice within healthcare.
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  • Castor, C, et al. (författare)
  • Psychometric evaluation of the electronic faces thermometer scale for pain assessment in children 8–17years old: A study protocol
  • 2023
  • Ingår i: Paediatric and Neonatal Pain. - : Wiley. - 2379-5824 .- 2637-3807. ; 5:4, s. 99-109
  • Tidskriftsartikel (refereegranskat)abstract
    • It is often a challenge for a child to communicate their pain, and their possibilities to do so should be strengthened in healthcare settings. Digital self-assessment provides a potential solution for person-centered care in pain management and promotes child participation when a child is ill. A child's perception of pain assessment differs when it is assessed using digital or analog formats. As we move into the digital era, there is an urgent need to validate digital pain assessment tools, including the newly developed electronic Faces Thermometer Scale (eFTS). This study protocol describes three studies with the overall aim to evaluate psychometric properties of the eFTS for assessing pain in children 8–17years of age. A multi-site project design combining quantitative and qualitative methods will be used for three observational studies. Study 1: 100 Swedish-speaking children will report the level of anticipated pain from vignettes describing painful situations in four levels of pain and a think-aloud method will be used for data collection. Data will be analyzed with phenomenography as well as descriptive and comparative statistics. Study 2: 600 children aged 8–17years at pediatric and dental settings in Sweden, Denmark, Iceland, and USA will be included. Children will assess their pain intensity due to medical or dental procedures, surgery, or acute pain using three different pain Scales for each time point; the eFTS, the Faces Pain Scale Revised, and the Coloured Analogue Scale. Descriptive and comparative statistics will be used, with subanalysis taking cultural context into consideration. Study 3: A subgroup of 20 children out of these 600 children will be purposely included in an interview to describe experiences of grading their own pain using the eFTS. Qualitative data will be analyzed with content analysis. Our pilot studies showed high level of adherence to the study procedure and rendered only a small revision of background questionnaires. Preliminary analysis indicated that the instruments are adequate to be used by children and that the analysis plan is feasible. A digital pain assessment tool contributes to an increase in pain assessment in pediatric care. The Medical Research Council framework for complex interventions in healthcare supports a thorough development of a new scale. By evaluating psychometric properties in several settings by both qualitative and quantitative methods, the eFTS will become a well-validated tool to strengthen the child's voice within healthcare.
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33.
  • Fantini, P., et al. (författare)
  • Socially Sustainable Manufacturing: Exploring the European Landscape
  • 2014
  • Ingår i: IFIP Advances in Information and Communication Technology. - Cham : Springer International Publishing. - 1868-4238 .- 1868-422X. - 9783662447352 ; 439:2, s. 474-481
  • Konferensbidrag (refereegranskat)abstract
    • Sustainable manufacturing has been extensively researched in the last decades, however there is a lack of coherence in literature specifically addressing its social dimension. Within the framework of the Social Sustainability-themed project SO SMART (Socially Sustainable Manufacturing for the Factories of the Future), a preliminary explorative survey and interview study were deployed among manufacturing companies and their stakeholders in Europe to investigate the extent to which they understand and practice social sustainability in relation to their business activities and context. Using an inquiry approach based on the main concepts related to social sustainability found in literature, this paper reports findings on preliminary exploration of the European landscape of social sustainability-related practices from a corporate and societal perspective. Findings contribute to the creation of a basis of shared knowledge as a prerequisite for extending and further developing concepts and models for socially sustainable manufacturing ecosystems.
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34.
  • Garber, Manuel, et al. (författare)
  • Closing gaps in the human genome using sequencing by synthesis
  • 2009
  • Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906. ; 10:6, s. R60-
  • Tidskriftsartikel (refereegranskat)abstract
    • The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature. Another class of gaps is likely to be refractory to clone-based approaches, and cannot be approached in ways previously described. We present an approach for closing these gaps using 454 sequencing. As a proof of principle, we closed all three remaining non-structural gaps in chromosome 15.
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  • Jagers, Sverker C., 1967, et al. (författare)
  • Why comply? Attitudes towards harvest regulations among Swedish fishers
  • 2012
  • Ingår i: Marine Policy. - : Elsevier BV. - 0308-597X .- 1872-9460. ; 36:5, s. 969-976
  • Tidskriftsartikel (refereegranskat)abstract
    • Why do fishers break rules? And why do they follow them? The answers to these pertinent questions could contribute to reducing overfishing, stock decimation, environmental degradation, economic losses and community failures. This explorative paper presents findings from a nationwide survey among Swedish fishers, who were asked what, in their opinion, would justify non-compliance, why fisheries management regulations are not being respected, and what might help improve the situation. The survey was conducted to test four inducements often suggested in the literature: Fishers' compliance/non-compliance is based on (a) their own benefit, (b) whether they feel morally compelled to do one way or another, (c) whether compliance is believed to create a negative impression among peers and (d) whether they accept the justification given for introducing the rules. Among other things, the study finds that the moral motives of law-abidingness and peer group solidarity rank the highest among the reasons for compliance, that large-scale fishers are more concerned about deterrence than small- and medium-scale fishers and also that co-management experience makes fishers less inclined to accept non-compliance by fishers who seek to boost their income. (C) 2012 Elsevier Ltd. All rights reserved.
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  • Kroeze, E., et al. (författare)
  • Pediatric Precursor B-Cell Lymphoblastic Malignancies: From Extramedullary to Medullary Involvement
  • 2022
  • Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 14:16
  • Tidskriftsartikel (refereegranskat)abstract
    • Simple Summary B-cell lymphoblastic lymphoma (BCP-LBL) and B-cell acute lymphoblastic leukemia (BCP-ALL) are both malignancies of immature B-cells. However, BCP-ALL has been extensively studied and treatment protocols have changed over the last decades, whereas BCP-LBL is quite rare, and treatment has stayed roughly the same. In this retrospective study, we compare the clinical characteristics of a cohort of BCP-LBL patients to a cohort BCP-ALL patients. With the comparison of this unique large cohort of immature B-cell malignancies, we aim to contribute to elucidating whether BCP-LBL and BCP-ALL represent two diseases, or different representations of the same disease. Increasing the understanding of BCP-LBL in comparison to BCP-ALL is crucial for improving treatment and prognosis for BCP-LBL. B-cell lymphoblastic lymphoma (BCP-LBL) and B-cell acute lymphoblastic leukemia (BCP-ALL) are the malignant counterparts of immature B-cells. BCP-ALL is the most common hematological malignancy in childhood, while BCP-LBL accounts for only 1% of all hematological malignancies in children. Therefore, BCP-ALL has been well studied and treatment protocols have changed over the last decades, whereas treatment for BCP-LBL has stayed roughly the same. Clinical characteristics of 364 pediatric patients with precursor B-cell malignancies were studied, consisting of BCP-LBL (n = 210) and BCP-ALL (n = 154) patients. Our results indicate that based on the clinical presentation of disease, B-cell malignancies probably represent a spectrum ranging from complete isolated medullary disease to apparent complete extramedullary disease. Hepatosplenomegaly and peripheral blood involvement are the most important discriminators, as both seen in 80% and 95% of the BCP-ALL patients and in 2% of the BCP-LBL patients, respectively. In addition, we show that the overall survival rates in this cohort differ significantly between BCP-LBL and BCP-ALL patients aged 1-18 years (p = 0.0080), and that the outcome for infants (0-1 years) with BCP-LBL is significantly decreased compared to BCP-LBL patients of all other pediatric ages (p < 0.0001).
  •  
40.
  • Krogh, K.B.R.M., et al. (författare)
  • Cloning of a GH5 endoglucanase from genus Penicillium and its binding to different lignins
  • 2009
  • Ingår i: Enzyme and Microbial Technology. - : Elsevier BV. - 0141-0229. ; :44, s. 359-367
  • Tidskriftsartikel (refereegranskat)abstract
    • The cel5C gene, coding for an endoglucanase (Cel5C) of Penicillium brasilianum was cloned and heterologously expressed in Aspergillus oryzae. This is only the second GH5 EG from the genus Penicillium reported in the CAZy database. The promoter region of the gene has putative binding sites for both the carbon catabolite repressor CreA and the activator XlnR. The pH optimum of Cel5C was found to be 4.0 and the temperature optimum was 70°C. At a typical temperature for lignocellulose hydrolysis Cel5C retained full residual activity after 20 h of incubation at pH 5.0 and 6.0. Adsorption to Avicel and steam pretreated spruce, was found to follow the Langmuir isotherm, and the maximum adsorption was similar for both substrates, 40 and 49 mg/g, respectively. The affinity for Avicel was 10 times higher than for steam pretreated spruce, 0.040 and 0.0035 L/mg, respectively. Non-productive binding of cellulolytic enzymes to lignin is an important obstacle to overcome for commercial biomass to ethanol production. Therefore, the adsorption on residual lignin produced from various biomass samples was investigated. Both substrate and pretreatment conditions resulted in different adsorptions of Cel5C to residual lignin.
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41.
  • Lindblad-Toh, Kerstin, et al. (författare)
  • Genome sequence, comparative analysis and haplotype structure of the domestic dog.
  • 2005
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 438:7069, s. 803-19
  • Tidskriftsartikel (refereegranskat)abstract
    • Here we report a high-quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds. The dog is of particular interest because it provides important evolutionary information and because existing breeds show great phenotypic diversity for morphological, physiological and behavioural traits. We use sequence comparison with the primate and rodent lineages to shed light on the structure and evolution of genomes and genes. Notably, the majority of the most highly conserved non-coding sequences in mammalian genomes are clustered near a small subset of genes with important roles in development. Analysis of SNPs reveals long-range haplotypes across the entire dog genome, and defines the nature of genetic diversity within and across breeds. The current SNP map now makes it possible for genome-wide association studies to identify genes responsible for diseases and traits, with important consequences for human and companion animal health.
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42.
  • Ludvigsson, Johnny, 1943-, et al. (författare)
  • Photopheresis at onset of type 1 diabetes : A randomised, double blind, placebo controlled trial
  • 2001
  • Ingår i: Archives of Disease in Childhood. - : BMJ. - 0003-9888 .- 1468-2044. ; 85:2, s. 149-154
  • Tidskriftsartikel (refereegranskat)abstract
    • Background - In recent years photopheresis, an extracorporeal form of photochemotherapy using psoralen and ultraviolet A irradiation of leucocytes, has been claimed to be an effective form of immunomodulation. Aim - To evaluate its effect in type 1 diabetes we performed a double blind, controlled study using placebo tablets and sham pheresis in the control group. Methods - A total of 49 children, aged 10-18 years of age at diagnosis of type 1 diabetes were included, 40 fulfilled the study and were followed for three years (19 received active treatment with photopheresis and 21 placebo treatment). Results - The actively treated children secreted significantly more C peptide in urine during follow up than control children. C peptide values in serum showed corresponding differences between the two groups. The insulin dose/kg body weight needed to achieve satisfactory HbA1c values was always lower in the photopheresis group, there was no difference between the groups regarding HbAlc values during follow up. The treatment was well accepted except for nausea (n = 3) and urticaria (n = 1) in the actively treated group. There were no differences regarding weight or height, or episodes of infection between the two groups during follow up. Conclusion - Photopheresis does have an effect in addition to its possible placebo effect, shown as a weak but significant effect on the disease process at the onset of type 1 diabetes, an effect still noted after three years of follow up.
  •  
43.
  • Mortzell, Monica, et al. (författare)
  • Thrombotic microangiopathy
  • 2011
  • Ingår i: Transfusion and apheresis science. - Oxford : Elsevier. - 1473-0502 .- 1878-1683. ; 45:2, s. 119-123
  • Tidskriftsartikel (refereegranskat)abstract
    • Thrombotic microangiopathy (TMA) is a histopathological feature of various diseases including thrombotic thrombocytopenic purpura (UP) and hemolytic uremic syndrome (HUS). There are many secondary causes of TMA, many of them could mimic TTP or HUS. This article presents a short overview on TMA. In conclusion TMA is the result of various etiology reasons and pathologic reactions with various clinical entities. It is important to focus on a thorough history including family history when deciding on a diagnosis. Analysis of ADAMTS 13 and ADAMTS 13-antibodies may help to decide continued therapy.
  •  
44.
  • Mörtzell Henriksson, Monica, et al. (författare)
  • Adverse events in apheresis : an update of the WAA registry data
  • 2016
  • Ingår i: Transfusion and apheresis science. - : Elsevier. - 1473-0502 .- 1878-1683. ; 54:1, s. 2-15
  • Forskningsöversikt (refereegranskat)abstract
    • Apheresis with different procedures and devices are used for a variety of indications that may have different adverse events (AEs). The aim of this study was to clarify the extent and possible reasons of various side effects based on data from a multinational registry. The WAA-apheresis registry data focus on adverse events in a total of 50846 procedures in 7142 patients (42% women). AEs were graded as mild, moderate (need for medication), severe (interruption due to the AE) or death (due to AE). More AEs occurred during the first procedures versus subsequent (8.4 and 5.5%, respectively). AEs were mild in 2.4% (due to access 54%, device 7%, hypotension 15%, tingling 8%), moderate in 3% (tingling 58%, urticaria 15%, hypotension 10%, nausea 3%), and severe in 0.4% of procedures (syncope/hypotension 32%, urticaria 17%, chills/fever 8%, arrhythmia/asystole 4.5%, nausea/vomiting 4%). Hypotension was most common if albumin was used as the replacement fluid, and urticaria when plasma was used. Arrhythmia occurred to similar extents when using plasma or albumin as replacement. In 64% of procedures with bronchospasm, plasma was part of the replacement fluid used. Severe AEs are rare. Although most reactions are mild and moderate, several side effects may be critical for the patient. We present side effects in relation to the procedures and suggest that safety is increased by regular vital sign measurements, cardiac monitoring and by having emergency equipment nearby.
  •  
45.
  • Mörtzell, Monica, et al. (författare)
  • Analyses of data of patients with Thrombotic Microangiopathy in the WAA registry
  • 2011
  • Ingår i: Transfusion and apheresis science. - : Elsevier. - 1473-0502 .- 1878-1683. ; 45:2, s. 125-131
  • Tidskriftsartikel (refereegranskat)abstract
    • Thrombotic Microangiopathy (TMA) is a histopathological feature of various diseases including thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. less thanbrgreater than less thanbrgreater thanThe aim of this study was to investigate the outcome and prognostic variables of TMA-patients. less thanbrgreater than less thanbrgreater thanMaterials and methods: Data were consecutively retrieved from the WAA-apheresis registry (www.waa-registry.org) during 2003-2009. Included were all 120 patients (1237 procedures) who suffered from various forms of TMA, as registered by the ICD-10 code M31.1. Besides registry data, more extensive information was retrieved from the latest 64 patients. Adverse events of the TMA patients were compared to those of the other patients in the registry. less thanbrgreater than less thanbrgreater thanResults: The mean age was 46 years (range 11-85 years, 57% women). In 72% therapeutic apheresis was due to an acute indication while a long-term indication was present in 28%. Plasma exchange was performed by centrifugation and filtration technique (95% and 4%, respectively), and immunoadsorption in 1% of the patients. Only fresh frozen plasma was used as replacement fluid in 69% of procedures. Adverse events were more frequent than in the general apheresis population (10% versus 5%, RR 1.9, CI 1.6-2.3). No death occurred due to apheresis treatment. Three percent of the procedures were interrupted. Bronchospasm and/or anaphylactic shock were present in two patients and one patient suffered from TRALI. At admission 26% were bedridden and needed to be fed. The risk of dying during the treatment period was significantly higher if the patient also suffered from a compromising disease, such as cancer. There was an inverse correlation between the ADAMTS13 level and the antibody titer (r = -0.47, p = 0.034). less thanbrgreater than less thanbrgreater thanConclusions: Patients with TMA have an increased risk for moderate and severe AE compared to the general apheresis population. Many patients were severely ill at admission. The prognosis is worse if the patient also has a severe chronic disease. Even slightly increased ADAMTS13-antibody titers seem to have a negative impact on the ADAMTS13 levels. (C) 2011 Elsevier Ltd. All rights reserved.
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46.
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47.
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48.
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50.
  • Runnström, Micael C., et al. (författare)
  • Image analysis to monitor experimental trampling and vegetation recovery in Icelandic plant communities
  • 2019
  • Ingår i: Environments - MDPI. - : MDPI AG. - 2076-3298. ; 6:9
  • Tidskriftsartikel (refereegranskat)abstract
    • With growing tourism in natural areas, monitoring recreational impacts is becoming increasingly important. This paper aims to evaluate how di_erent trampling intensities a_ect some common Icelandic plant communities by using digital photographs to analyze and quantify vegetation in experimental plots and to monitor vegetation recovery rates over a consecutive three-year period. Additionally, it seeks to evaluate the use of image analysis for monitoring recreational impact in natural areas. Experimental trampling was conducted in two different sites representing the lowlands and the highlands in 2014, and the experimental plots were revisited in 2015, 2016, and 2017. The results show that moss has the highest sensitivity to trampling, and furthermore has a slow recovery rate. Moss-heaths in the highlands also show higher sensitivity and slower recovery rates than moss-heaths in the lowlands, and grasslands show the highest resistance to trampling. Both methods tested, i.e., Green Chromatic Coordinate (GCC) and Maximum Likelihood Classification (MLC), showed significant correlation with the trampling impact. Using image analysis to quantify the status and define limits of use will likely be a valuable and vital element in managing recreational areas. Unmanned aerial vehicles (UAVs) will add a robust way to collect photographic data that can be processed into vegetation parameters to monitor recreational impacts in natural areas.
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